Detail Information of AutCNV0000028
1. Sample AND Method Top
Users can click the chromosome coordinates of "Region" label to view information in UCSC Genome Browser.
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | |||||
| Caucasion |  | | ASD | 1491 | - | - | - | - | - | 0 | Szatmari, 2007 |
| Population: | Europe, North America | ||||||||||
| Platform: | Affymetrix 10K v2 SNP array | ||||||||||
| Method: | SNP microarray | ||||||||||
| Marker: | - | ||||||||||
| Band: | 15q21.2-26.3 | ||||||||||
| Evidences: | CNVs Overlapping With ACRD; | ||||||||||
| Region: | Chr15: 51558408-102352477 (hg17: Chr15: 49345700-100170000) | ||||||||||
| Gain/Loss: | gain | ||||||||||
2. Related Syndromic Genes TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Gene ID | Gene Symbol | Inheritance | Evidence Level |
|---|---|---|---|
| AutG5604 | MAP2K1 | AD | Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
3. Related Non-syndromic Genes Top| Gene ID | Gene Symbol | Evidence Score | Total Score | |||||
|---|---|---|---|---|---|---|---|---|
| Low-Scale Association | GWAS | Low-Scale Single Gene | Expression | CNV | Linkage | |||
| AutG1106 | CHD2 | 0 | 0 | 1 | 0 | 1 | 1 | 52 |
| AutG5604 | MAP2K1 | 0 | 0 | 0 | 2 | 1 | 0 | 24 |
| AutG9899 | SV2B | 0 | 0 | 0 | 2 | 1 | 1 | 16 |
| AutG220 | ALDH1A3 | 0 | 0 | 0 | 2 | 1 | 0 | 14 |
| AutG6095 | RORA | 0 | 0 | 1 | 0 | 1 | 1 | 14 |
| AutG79705 | LRRK1 | 0 | 0 | 0 | 1 | 1 | 0 | 13 |
| AutG4756 | NEO1 | 0 | 0 | 1 | 0 | 1 | 0 | 12 |
| AutG9915 | ARNT2 | 1 | 0 | 0 | 0 | 1 | 0 | 12 |
| AutG54913 | RPP25 | 0 | 0 | 1 | 0 | 0 | 0 | 10 |
| AutG8128 | ST8SIA2 | 0 | 1 | 0 | 0 | 1 | 1 | 8 |
| AutG145773 | FAM81A | 0 | 0 | 0 | 2 | 1 | 1 | 6 |
| AutG4916 | NTRK3 | 2 | 0 | 0 | 0 | 1 | 0 | 6 |
| AutG4240 | MFGE8 | 0 | 0 | 0 | 2 | 1 | 1 | 6 |
| AutG9236 | CCPG1 | 0 | 0 | 0 | 2 | 1 | 1 | 6 |
| AutG64782 | AEN | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG2242 | FES | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG91947 | ARRDC4 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG5873 | RAB27A | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG51065 | RPS27L | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG400451 | FAM174B | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG7026 | NR2F2 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG51187 | RSL24D1 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG302 | ANXA2 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG54832 | VPS13C | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG771 | CA12 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG56204 | KIAA1370 | 0 | 0 | 0 | 2 | 0 | 1 | 4 |
| AutG5151 | PDE8A | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG348093 | RBPMS2 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG192683 | SCAMP5 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG23205 | ACSBG1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG597 | BCL2A1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG6218 | RPS17 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG123720 | WHAMM | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG145748 | LYSMD4 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG4644 | MYO5A | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG9543 | IGDCC3 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG54939 | COMMD4 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG1512 | CTSH | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG1583 | CYP11A1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |